Varaico: Literature-Extracted Genetic Variants

BTK

1,389 papers

RefSeq Summary

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure ...

Pfam Domains

PHaa 4–133UCSCPH domain

BTKaa 141–170UCSCBTK motif

SH3_1aa 220–266UCSCSH3 domain

SH2aa 281–355UCSCSH2 domain

SH2aa 281–362UCSCSH2 domain

PK_Tyr_Ser-Thraa 402–651UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Bruton tyrosine kinase

HGNC Previous Symbols

AGMX1; IMD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000061.3

p.K19Q

c.55A>C

Surrounding Variants

3 papers

NM_000061.3

p.K19*

c.55A>T

5 papers

NM_000061.3

p.K19E

c.55A>G

1 paper

NM_000061.3

p.K19R

c.56A>G

1 paper

NM_000061.3

p.K19N

c.57A>T

1 paper

NM_000061.3

p.K18M

c.53A>T

1 paper

NM_000061.3

p.T20A

c.58A>G

1 paper

NM_000061.3

p.T20I

c.59C>T

2 papers

NM_000061.3

p.S21A

c.61T>G

1 paper

NM_000061.3

p.S21*

c.62C>G

1 paper

NM_000061.3

p.S21*

c.62C>A

1 paper

NM_000061.3

p.Q16P

c.47A>C

1 paper

NM_000061.3

p.P22S

c.64C>T